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CEP89 centrosomal protein 89 [ Homo sapiens (human) ]

Gene ID: 84902, updated on 23-Nov-2023

Summary

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Official Symbol
CEP89provided by HGNC
Official Full Name
centrosomal protein 89provided by HGNC
Primary source
HGNC:HGNC:25907
See related
Ensembl:ENSG00000121289 MIM:615470; AllianceGenome:HGNC:25907
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CEP123; CCDC123
Summary
Involved in non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including cytosol; microtubule cytoskeleton; and non-motile cilium. Part of ciliary transition fiber. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 2.9), endometrium (RPKM 2.6) and 25 other tissues See more
Orthologs
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Genomic context

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See CEP89 in Genome Data Viewer
Location:
19q13.11
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (32875925..32971958, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (35394651..35490633, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33366831..33462864, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene tudor domain containing 12 Neighboring gene glial cells missing transcription factor 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33319941-33320462 Neighboring gene solute carrier family 7 member 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33358961-33359536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33360978-33361500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33361501-33362023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33366062-33366947 Neighboring gene RN7SK pseudogene 22 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33426525-33427026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33427027-33427526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14436 Neighboring gene ribosomal protein L31 pseudogene 60 Neighboring gene FA core complex associated protein 24 Neighboring gene rhophilin Rho GTPase binding protein 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33522974-33523845 Neighboring gene HNF1 motif-containing MPRA enhancer 165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33532539-33533040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33534226-33534776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:33539186-33539904 Neighboring gene uncharacterized LOC124904805

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. CEP89 is required for mitochondrial metabolism and neuronal function in man and fly. van Bon BW, et al. Hum Mol Genet, 2013 Aug 1. PMID 23575228
  2. Primary ciliogenesis requires the distal appendage component Cep123. Sillibourne JE, et al. Biol Open, 2013 Jun 15. PMID 23789104, Free PMC Article
  3. Human-specific nonsense mutations identified by genome sequence comparisons. Hahn Y, et al. Hum Genet, 2006 Mar. PMID 16395595
  4. Centriole distal appendages promote membrane docking, leading to cilia initiation. Tanos BE, et al. Genes Dev, 2013 Jan 15. PMID 23348840, Free PMC Article
  5. Genetic loci influencing kidney function and chronic kidney disease. Chambers JC, et al. Nat Genet, 2010 May. PMID 20383145, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic loci influencing kidney function and chronic kidney disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14640

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ciliary transition fiber IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ciliary transition fiber IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in mitochondrial intermembrane space IEA
Inferred from Electronic Annotation
more info
  
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  
located_in non-motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
centrosomal protein of 89 kDa
Names
centrosomal protein 123
centrosomal protein 89kDa
coiled-coil domain containing 123
coiled-coil domain-containing protein 123, mitochondrial

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032816.5 → NP_116205.3  centrosomal protein of 89 kDa

    See identical proteins and their annotated locations for NP_116205.3

    Status: VALIDATED

    Source sequence(s)
    AC008805, BC136328, BU196203, BU628988, DA040903, DB539713
    Consensus CDS
    CCDS32987.1
    UniProtKB/Swiss-Prot
    B9EGA6, Q8N5J8, Q96ST8
    Related
    ENSP00000306105.4, ENST00000305768.10
    Conserved Domains (1) summary
    TIGR04211
    Location:233 → 346
    SH3_and_anchor; SH3 domain protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    32875925..32971958 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259344.4 → XP_005259401.1  centrosomal protein of 89 kDa isoform X1

    Conserved Domains (1) summary
    COG1196
    Location:238 → 695
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  2. XM_047439562.1 → XP_047295518.1  centrosomal protein of 89 kDa isoform X3

  3. XM_017027398.2 → XP_016882887.1  centrosomal protein of 89 kDa isoform X2

  4. XM_047439563.1 → XP_047295519.1  centrosomal protein of 89 kDa isoform X4

    UniProtKB/TrEMBL
    K7EJF0
    Related
    ENSP00000465141.1, ENST00000586984.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    35394651..35490633 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322427.1 → XP_054178402.1  centrosomal protein of 89 kDa isoform X1

  2. XM_054322429.1 → XP_054178404.1  centrosomal protein of 89 kDa isoform X3

  3. XM_054322428.1 → XP_054178403.1  centrosomal protein of 89 kDa isoform X2

  4. XM_054322430.1 → XP_054178405.1  centrosomal protein of 89 kDa isoform X4

    UniProtKB/TrEMBL
    K7EJF0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96ST8.3 GenPept UniProtKB/Swiss-Prot:Q96ST8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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